gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79073796 (AMR)
Genomes Max Group AF
0.79073796 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41855386A>G , CM000683.2:g.41855386A>G | GRCh38 |
| NC_000021.8:g.43275495A>G , CM000683.1:g.43275495A>G | GRCh37 |
| NC_000021.7:g.42148564A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269844.5:c.484-568T>C | ENSP00000269844.4:n.484-568T>C | |
| ENST00000398548.6:c.286-568T>C MANE Select | ENSP00000381556.2:n.286-568T>C | |
| ENST00000422911.6:c.286-568T>C | ENSP00000408592.2:n.286-568T>C | |
| ENST00000449395.6:c.286-568T>C | ENSP00000396943.2:n.286-568T>C | |
| ENST00000269844.4:c.1384-568T>C | ENSP00000269844.3:n.1384-568T>C | |
| ENST00000398548.5:c.397-568T>C | ENSP00000381556.1:n.397-568T>C | |
| ENST00000422911.5:c.397-568T>C | ENSP00000408592.1:n.397-568T>C | |
| ENST00000433067.5:c.1384-568T>C | ENSP00000415471.1:n.1384-568T>C | |
| ENST00000441787.5:c.286-568T>C | ENSP00000387958.1:n.286-568T>C | |
| ENST00000447016.6:c.286-568T>C | ENSP00000431410.1:n.286-568T>C | |
| ENST00000447207.6:c.286-568T>C | ENSP00000390245.2:n.286-568T>C | |
| ENST00000449395.5:c.397-568T>C | ENSP00000396943.1:n.397-568T>C | |
| NM_001040424.2:c.397-568T>C | NP_001035514.1:n.397-568T>C | |
| NM_001282934.1:c.397-568T>C | NP_001269863.1:n.397-568T>C | |
| NM_022115.4:c.1384-568T>C | NP_071398.3:n.1384-568T>C | |
| NR_104257.1:n.508-568T>C | ||
| NR_104258.1:n.508-568T>C | ||
| NR_104260.1:n.363-568T>C | ||
| XM_006724039.2:c.397-568T>C | XP_006724102.1:n.397-568T>C | |
| XM_006724040.2:c.397-568T>C | XP_006724103.1:n.397-568T>C | |
| XM_011529671.1:c.301-568T>C | XP_011527973.1:n.301-568T>C | |
| XM_011529672.1:c.298-568T>C | XP_011527974.1:n.298-568T>C | |
| XM_011529673.1:c.298-568T>C | XP_011527975.1:n.298-568T>C | |
| XM_011529674.1:c.397-568T>C | XP_011527976.1:n.397-568T>C | |
| XM_011529675.1:c.286-568T>C | XP_011527977.1:n.286-568T>C | |
| XM_011529676.1:c.286-568T>C | XP_011527978.1:n.286-568T>C | |
| XM_011529677.1:c.286-568T>C | XP_011527979.1:n.286-568T>C | |
| XM_011529678.1:c.286-568T>C | XP_011527980.1:n.286-568T>C | |
| XM_011529679.1:c.286-568T>C | XP_011527981.1:n.286-568T>C | |
| XM_011529680.1:c.286-568T>C | XP_011527982.1:n.286-568T>C | |
| XM_011529681.1:c.298-568T>C | XP_011527983.1:n.298-568T>C | |
| XM_011529682.1:c.397-568T>C | XP_011527984.1:n.397-568T>C | |
| XM_011529683.1:c.1186-568T>C | XP_011527985.1:n.1186-568T>C | |
| XR_937542.1:n.422-568T>C | ||
| NR_135464.1:n.504-568T>C | ||
| XM_011529676.2:c.286-568T>C | XP_011527978.1:n.286-568T>C | |
| XM_011529677.2:c.286-568T>C | XP_011527979.1:n.286-568T>C | |
| XM_011529678.2:c.286-568T>C | XP_011527980.1:n.286-568T>C | |
| XM_011529679.2:c.286-568T>C | XP_011527981.1:n.286-568T>C | |
| XM_011529681.3:c.298-568T>C | XP_011527983.1:n.298-568T>C | |
| XM_017028425.1:c.286-568T>C | XP_016883914.1:n.286-568T>C | |
| XM_017028426.1:c.286-568T>C | XP_016883915.1:n.286-568T>C | |
| XR_001754886.1:n.397-568T>C | ||
| XR_001754887.1:n.397-568T>C | ||
| NM_001040424.3:c.286-568T>C MANE Select | NP_001035514.2:n.286-568T>C | |
| NM_001282934.2:c.286-568T>C | NP_001269863.2:n.286-568T>C | |
| NM_022115.5:c.1033-568T>C | NP_071398.4:n.1033-568T>C | |
| NR_104257.2:n.370-568T>C | ||
| NR_104258.2:n.370-568T>C | ||
| NR_135464.2:n.366-568T>C | ||
| NM_022115.7:c.484-568T>C | NP_071398.5:n.484-568T>C |